CPT® Code 81307

The CPT® Code 81307 pertains to the molecular genetic testing of the PALB2 gene, which is crucial for understanding certain hereditary cancer risks. The PALB2 gene, located on the short (p) arm of chromosome 16 at position 12.2 (16p12.2), encodes a protein that interacts with the BRCA2 gene, as well as potentially with other genes such as BRC3, BRC4, and RAD51. Mutations that lead to the loss of function of the PALB2 gene have been associated with an elevated risk of developing breast cancer in both males and females, as well as pancreatic cancer and Fanconi anemia. These mutations can occur across diverse ethnic and racial groups, highlighting the importance of genetic testing in various populations. The analysis of the PALB2 gene, which includes full gene sequencing and the identification of known familial variants, serves multiple purposes: it can confirm a hereditary predisposition to cancer, guide treatment decisions, and help identify family members who may also be at risk. The testing process typically involves obtaining samples from whole blood, saliva, buccal cells, cultured cells, or extracted DNA, which are collected through separate procedures. The full gene sequence analysis is conducted using advanced techniques such as next-generation sequencing (NGS) and polymerase chain reaction (PCR) to examine the entire coding regions of the gene. Additionally, methods like multiple ligation-dependent probe amplification (MLPA) may be employed to detect larger deletion or duplication mutations. For testing known familial variants, a specific site on the PALB2 gene is scrutinized for mutations previously identified in a family member, utilizing techniques such as PCR followed by DNA sequencing analysis or gene dosage analysis through array comparative genomic hybridization (aCGH) or MLPA.